CLINICAL FINDINGS OF 2-MONTHS-OLD BABY WITH APERT SYNDROME: A RARE CASE REPORT

Abstract

Apert Syndrome is a rare congenital disorder characterized by a premature sutural fusion that can occur as a single abnormality or associated with other anomalies. Mutations are transmitted in the paternal chromosome, which is why advanced paternal age could be a risk factor. We report a 2-months old baby boy came to the ER with shortness of breath and difficulty in nutrition intake caused by choking at home. Physical examination revealed there was more than one congenital abnormalities exist on this patient, including craniosynostosis, prominent frontal region, mid-face hypoplasia, wide set eyes (hypertelorism), downslanting palpebral fissure, ocular proptosis, low-set ears, dysplasia of both ears, symmetrical syndactyly of both fingers and toes, and cleft palate which is revealed in intra-oral examination. Early diagnosis and intervention from multidisciplinary approach is important in improving the outcome of Apert Syndrome.

Keywords: Apert Syndrome, Craniosynostosis, paternal, multidisciplinary